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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
17
Cytoband
p13.1
Chromosome location (bp)
7686071 - 7703502
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
RNA chaperone that plays a key role in telomere maintenance and RNA localization to Cajal bodies 1,2. Specifically recognizes and binds the Cajal body box (CAB box) present in both small Cajal body RNAs (scaRNAs) and telomerase RNA template component (TERC) 3,4,5,6. Essential component of the telomerase holoenzyme complex, a ribonucleoprotein complex essential for the replication of chromosome termini that elongates telomeres in most eukaryotes 7,8,9,10. In the telomerase holoenzyme complex, required to stimulate the catalytic activity of the complex 11,12. Acts by specifically binding the CAB box of the TERC RNA and controlling the folding of the CR4/CR5 region of the TERC RNA, a critical step for telomerase activity 13. In addition, also controls telomerase holoenzyme complex localization to Cajal body 14. During S phase, required for delivery of TERC to telomeres during S phase and for telomerase activity 15. In addition to its role in telomere maintenance, also required for Cajal body formation, probably by mediating localization of scaRNAs to Cajal bodies 16,17. Also plays a role in DNA repair: phosphorylated by ATM in response to DNA damage and relocalizes to sites of DNA double-strand breaks to promote the repair of DNA double-strand breaks 18,19. Acts by recruiting the ubiquitin ligase RNF8 to DNA breaks and promote both homologous recombination (HR) and non-homologous end joining (NHEJ) 20,21....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Chaperone, RNA-binding
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
DNA damage, DNA repair, Host-virus interaction
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes an essential component of the telomerase holoenzyme complex, a ribonucleoprotein complex required for telomere synthesis. This protein is enriched in Cajal bodies, nuclear sites of RNP processing that are important for telomerase function. It interacts with dyskerin, TERT and TERC, other components of active telomerase, and with small Cajal body RNAs (scaRNAs), which are involved in modifying splicing RNAs. This mRNA also functions as a p53 antisense transcript, that regulates endogenous p53 mRNA levels and further induction of p53 protein by targeting the 5' untranslated region of p53 mRNA. Alternatively spliced transcript variants which differ only in the 5' UTR have been found for this gene. [provided by RefSeq, Mar 2011]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Q9BUR4 [Direct mapping] Telomerase Cajal body protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Other congenital disorders Ribosomopathies Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000781[chromosome, telomeric region] GO:0003723[RNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0005697[telomerase holoenzyme complex] GO:0005829[cytosol] GO:0006281[DNA repair] GO:0006974[cellular response to DNA damage stimulus] GO:0007004[telomere maintenance via telomerase] GO:0015030[Cajal body] GO:0016604[nuclear body] GO:0030576[Cajal body organization] GO:0031625[ubiquitin protein ligase binding] GO:0032203[telomere formation via telomerase] GO:0034337[RNA folding] GO:0035861[site of double-strand break] GO:0042393[histone binding] GO:0042802[identical protein binding] GO:0044877[protein-containing complex binding] GO:0045739[positive regulation of DNA repair] GO:0051087[chaperone binding] GO:0051973[positive regulation of telomerase activity] GO:0070034[telomerase RNA binding] GO:0090666[scaRNA localization to Cajal body] GO:0090671[telomerase RNA localization to Cajal body] GO:1904851[positive regulation of establishment of protein localization to telomere] GO:1904867[protein localization to Cajal body] GO:1905168[positive regulation of double-strand break repair via homologous recombination] GO:2000781[positive regulation of double-strand break repair] GO:2001034[positive regulation of double-strand break repair via nonhomologous end joining]
Q9BUR4 [Direct mapping] Telomerase Cajal body protein 1
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Other congenital disorders Ribosomopathies Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000781[chromosome, telomeric region] GO:0003723[RNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0005697[telomerase holoenzyme complex] GO:0005829[cytosol] GO:0006281[DNA repair] GO:0006974[cellular response to DNA damage stimulus] GO:0007004[telomere maintenance via telomerase] GO:0015030[Cajal body] GO:0016604[nuclear body] GO:0030576[Cajal body organization] GO:0031625[ubiquitin protein ligase binding] GO:0032203[telomere formation via telomerase] GO:0034337[RNA folding] GO:0035861[site of double-strand break] GO:0042393[histone binding] GO:0042802[identical protein binding] GO:0044877[protein-containing complex binding] GO:0045739[positive regulation of DNA repair] GO:0051087[chaperone binding] GO:0051973[positive regulation of telomerase activity] GO:0070034[telomerase RNA binding] GO:0090666[scaRNA localization to Cajal body] GO:0090671[telomerase RNA localization to Cajal body] GO:1904851[positive regulation of establishment of protein localization to telomere] GO:1904867[protein localization to Cajal body] GO:1905168[positive regulation of double-strand break repair via homologous recombination] GO:2000781[positive regulation of double-strand break repair] GO:2001034[positive regulation of double-strand break repair via nonhomologous end joining]
Q9BUR4 [Direct mapping] Telomerase Cajal body protein 1
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Other congenital disorders Ribosomopathies Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000781[chromosome, telomeric region] GO:0003723[RNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0005697[telomerase holoenzyme complex] GO:0005829[cytosol] GO:0006281[DNA repair] GO:0006974[cellular response to DNA damage stimulus] GO:0007004[telomere maintenance via telomerase] GO:0015030[Cajal body] GO:0016604[nuclear body] GO:0030576[Cajal body organization] GO:0031625[ubiquitin protein ligase binding] GO:0032203[telomere formation via telomerase] GO:0034337[RNA folding] GO:0035861[site of double-strand break] GO:0042393[histone binding] GO:0042802[identical protein binding] GO:0044877[protein-containing complex binding] GO:0045739[positive regulation of DNA repair] GO:0051087[chaperone binding] GO:0051973[positive regulation of telomerase activity] GO:0070034[telomerase RNA binding] GO:0090666[scaRNA localization to Cajal body] GO:0090671[telomerase RNA localization to Cajal body] GO:1904851[positive regulation of establishment of protein localization to telomere] GO:1904867[protein localization to Cajal body] GO:1905168[positive regulation of double-strand break repair via homologous recombination] GO:2000781[positive regulation of double-strand break repair] GO:2001034[positive regulation of double-strand break repair via nonhomologous end joining]
Q9BUR4 [Direct mapping] Telomerase Cajal body protein 1
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Other congenital disorders Ribosomopathies Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000781[chromosome, telomeric region] GO:0003723[RNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0005697[telomerase holoenzyme complex] GO:0005829[cytosol] GO:0006281[DNA repair] GO:0006974[cellular response to DNA damage stimulus] GO:0007004[telomere maintenance via telomerase] GO:0015030[Cajal body] GO:0016604[nuclear body] GO:0030576[Cajal body organization] GO:0031625[ubiquitin protein ligase binding] GO:0032203[telomere formation via telomerase] GO:0034337[RNA folding] GO:0035861[site of double-strand break] GO:0042393[histone binding] GO:0042802[identical protein binding] GO:0044877[protein-containing complex binding] GO:0045739[positive regulation of DNA repair] GO:0051087[chaperone binding] GO:0051973[positive regulation of telomerase activity] GO:0070034[telomerase RNA binding] GO:0090666[scaRNA localization to Cajal body] GO:0090671[telomerase RNA localization to Cajal body] GO:1904851[positive regulation of establishment of protein localization to telomere] GO:1904867[protein localization to Cajal body] GO:1905168[positive regulation of double-strand break repair via homologous recombination] GO:2000781[positive regulation of double-strand break repair] GO:2001034[positive regulation of double-strand break repair via nonhomologous end joining]
E9PMG4 [Direct mapping] Telomerase Cajal body protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other congenital disorders Ribosomopathies Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other congenital disorders Ribosomopathies Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other congenital disorders Ribosomopathies Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other congenital disorders Ribosomopathies Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
